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Anterior pituitary hypoplasia

MedGen UID:
347950
Concept ID:
C1859775
Congenital Abnormality
Synonyms: Hypoplasia of anterior pituitary; Hypoplasia of the anterior pituitary; Small anterior pituitary lobe
 
HPO: HP:0010627

Definition

Underdevelopment of the anterior pituitary gland. [from HPO]

Term Hierarchy

Conditions with this feature

Autosomal dominant isolated somatotropin deficiency
MedGen UID:
124405
Concept ID:
C0271567
Disease or Syndrome
Type II IGHD is an autosomal dominant disorder characterized by low but detectable levels of growth hormone (GH), variable height deficit and age at presentation, and good response to rhGH. Patients may show anterior pituitary hypoplasia on MRI (summary by Phillips and Cogan, 1994; Alatzoglou and Dattani, 2012).
Septo-optic dysplasia sequence
MedGen UID:
90926
Concept ID:
C0338503
Disease or Syndrome
Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum (Dattani et al., 1998). The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. Approximately 30% of patients have complete manifestations, 62% display hypopituitarism, and 60% have an absent septum pellucidum. The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10,000 live births (summary by Webb and Dattani, 2010). Also see 516020.0012 for a form of septooptic dysplasia associated with cardiomyopathy and exercise intolerance.
Lenz-Majewski hyperostosis syndrome
MedGen UID:
98483
Concept ID:
C0432269
Congenital Abnormality
Lenz-Majewski hyperostotic dwarfism is a rare condition characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial and dental anomalies, loose skin, and distal limb anomalies, particularly brachydactyly and symphalangism. Patients have multiple radiographic abnormalities due to progressive generalized hyperostosis that affects the cranium, vertebrae, and diaphyses of tubular bones, leading to severe growth retardation (summary by Sousa et al., 2014).
Holoprosencephaly 9
MedGen UID:
324369
Concept ID:
C1835819
Disease or Syndrome
Holoprosencephaly-9 refers to a disorder characterized by a wide phenotypic spectrum of brain developmental defects, with or without overt forebrain cleavage abnormalities. It usually includes midline craniofacial anomalies involving the first branchial arch and/or orbits, pituitary hypoplasia with panhypopituitarism, and postaxial polydactyly. The disorder shows incomplete penetrance and variable expressivity (summary by Roessler et al., 2003 and Bertolacini et al., 2012). For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).
Anophthalmia/microphthalmia-esophageal atresia syndrome
MedGen UID:
347232
Concept ID:
C1859773
Disease or Syndrome
The phenotypic spectrum of SOX2 disorder includes anophthalmia and/or microphthalmia, brain malformations, developmental delay / intellectual disability, esophageal atresia, hypogonadotropic hypogonadism (manifest as cryptorchidism and micropenis in males, gonadal dysgenesis infrequently in females, and delayed puberty in both sexes), pituitary hypoplasia, postnatal growth delay, hypotonia, seizures, and spastic or dystonic movements.
Ulnar-mammary syndrome
MedGen UID:
357886
Concept ID:
C1866994
Disease or Syndrome
Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies (Bamshad et al., 1996).
Pituitary hormone deficiency, combined, 1
MedGen UID:
414421
Concept ID:
C2751608
Disease or Syndrome
Combined pituitary hormone deficiency (CPHD) in man denotes impaired production of growth hormone (GH; 139250) and one or more of the other 5 anterior pituitary hormones. Mutations of the POU1F1 gene in the human and Pit1 in the mouse are responsible for pleiotropic deficiencies of GH, prolactin (PRL; 176760), and thyroid-stimulating hormone (TSH; see 188540), while the production of adrenocorticotrophic hormone (ACTH; see 176830), luteinizing hormone (LH; 152780), and follicle-stimulating hormone (FSH; 136530) are preserved (Wu et al., 1998). Some patients exhibit only GH deficiency, although approximately 50% of isolated GH deficiency progresses to CPHD (Gergics et al., 2021). In infancy severe growth deficiency from birth as well as distinctive facial features with prominent forehead, marked midfacial hypoplasia with depressed nasal bridge, deep-set eyes, and a short nose with anteverted nostrils and hypoplastic pituitary gland by MRI examination can be seen (Aarskog et al., 1997). Some cases present with severe mental retardation along with short stature (Radovick et al., 1992). Reviews Voss and Rosenfeld (1992) reviewed the development and differentiation of the 5 pituitary cell types: galactotropes, gonadotropes, corticotropes, thyrotropes, and somatotropes. As indicated by the mutations in PIT1 described later, combined pituitary hormone deficiency can have either autosomal dominant or autosomal recessive inheritance, depending on the part of the PIT1 molecule affected by the mutation. Some mutations have a dominant-negative effect. Genetic Heterogeneity of Combined Pituitary Hormone Deficiency CPHD2 (262600), associated with hypogonadism, is caused by mutation in the PROP1 gene (601538). CPHD3 (221750), which is associated with rigid cervical spine and variable sensorineural deafness, is caused by mutation in the LHX3 gene (600577). CPHD4 (262700) is caused by mutation in the LHX4 gene (602146). CPHD5 (see septooptic dysplasia, 182230) is caused by mutation in the HESX1 gene (601802). CPHD6 (613986) is caused by mutation in the OTX2 gene (600037). CPHD7 (618160) is caused by mutation in the RNPC3 gene (618016).
Chromosome 14q11-q22 deletion syndrome
MedGen UID:
462057
Concept ID:
C3150707
Disease or Syndrome
14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.
Non-acquired combined pituitary hormone deficiency with spine abnormalities
MedGen UID:
483740
Concept ID:
C3489787
Disease or Syndrome
Combined pituitary hormone deficiency-3 (CPHD3) is an autosomal recessive disorder characterized by hypopituitarism with structural anterior pituitary defects and cervical abnormalities with or without restricted neck rotation. Some patients have sensorineural hearing loss (summary by Rajab et al., 2008). For a discussion of phenotypic and genetic heterogeneity of combined pituitary hormone deficiency, see CPHD1 (613038).
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
MedGen UID:
862916
Concept ID:
C4014479
Disease or Syndrome
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.
Webb-Dattani syndrome
MedGen UID:
863145
Concept ID:
C4014708
Disease or Syndrome
Webb-Dattani syndrome is an autosomal recessive disorder characterized by frontotemporal hypoplasia, globally delayed development, and pituitary and hypothalamic insufficiency due to hypoplastic development of these brain regions. Patients present soon after birth with multiple pituitary hormonal deficiencies and subsequently develop microcephaly, seizures, and spasticity. Other features include postretinal blindness and renal abnormalities (summary by Webb et al., 2013).
Polyendocrine-polyneuropathy syndrome
MedGen UID:
863698
Concept ID:
C4015261
Disease or Syndrome
A rare genetic disease with characteristics of childhood onset of multiple endocrine manifestations in combination with central and peripheral nervous system abnormalities. Reported signs and symptoms include postnatal growth retardation, moderate intellectual disability, hypogonadotropic hypogonadism, insulin-dependent diabetes mellitus, central hypothyroidism, demyelinating sensorimotor polyneuropathy, cerebellar and pyramidal signs. Progressive hearing loss and a hypoplastic pituitary gland have also been described. Brain imaging shows moderate white matter abnormalities.
Isolated growth hormone deficiency, type 4
MedGen UID:
1648300
Concept ID:
C4722273
Disease or Syndrome
Isolated growth hormone deficiency type IV (IGHD4) is an autosomal recessive disorder characterized by early and severe growth failure (height SDS up to -7.4), a blunted growth hormone (GH) response to different provocation tests and low insulin-like growth factor-I (IGF1; 147440) and IGF-binding protein-3 (IGFBP3; 146732) concentrations, and a good response to growth hormone treatment (summary by Alatzoglou et al., 2014). For general phenotypic information and a discussion of genetic heterogeneity of IGHD, see 262400.
Isolated growth hormone deficiency, type 5
MedGen UID:
1648500
Concept ID:
C4748435
Disease or Syndrome
Combined pituitary hormone deficiency (CPHD) in man denotes impaired production of growth hormone (GH; 139250) and one or more of the other 5 anterior pituitary hormones. Some patients exhibit only GH deficiency, although approximately 50% of isolated GH deficiency progresses to CPHD (Gergics et al., 2021). Individuals with CPHD7 have been reported with isolated GH deficiency as well as combined deficiencies including thyroid-stimulating hormone (TSH; see 188540) and/or prolactin (PRL; 176760). In addition to severe postnatal short stature, patients exhibit delayed bone age and hypoplasia of the anterior pituitary, as well as distinctive facial dysmorphisms including frontal bossing and depressed nasal bridge (Argente et al., 2014; Verberne et al., 2020; Yamada et al., 2021). For general phenotypic information and a discussion of genetic heterogeneity of CPHD, see 613038.
Deeah syndrome
MedGen UID:
1756624
Concept ID:
C5436579
Disease or Syndrome
DEEAH syndrome is an autosomal recessive multisystemic disorder with onset in early infancy. Affected individuals usually present in the perinatal period with respiratory insufficiency, apneic episodes, and generalized hypotonia. The patients have failure to thrive and severely impaired global development with poor acquisition of motor, cognitive, and language skills. Other common features include endocrine, pancreatic exocrine, and autonomic dysfunction, as well as hematologic disturbances, mainly low hemoglobin. Patients also have dysmorphic and myopathic facial features. Additional more variable features include seizures, undescended testes, and distal skeletal anomalies. Death in early childhood may occur (summary by Schneeberger et al., 2020).
Biliary, renal, neurologic, and skeletal syndrome
MedGen UID:
1794200
Concept ID:
C5561990
Disease or Syndrome
Biliary, renal, neurologic, and skeletal syndrome (BRENS) is an autosomal recessive complex ciliopathy with multisystemic manifestations. The most common presentation is severe neonatal cholestasis that progresses to liver fibrosis and cirrhosis. Most patients have additional clinical features suggestive of a ciliopathy, including postaxial polydactyly, hydrocephalus, retinal abnormalities, and situs inversus. Additional features of the syndrome may include congenital cardiac defects, echogenic kidneys with renal failure, ocular abnormalities, joint hyperextensibility, and dysmorphic facial features. Some patients have global developmental delay. Brain imaging typically shows dilated ventricles, hypomyelination, and white matter abnormalities, although some patients have been described with abnormal pituitary development (summary by Shaheen et al., 2020 and David et al., 2020).
Chilton-Okur-Chung neurodevelopmental syndrome
MedGen UID:
1803276
Concept ID:
C5677022
Disease or Syndrome
Chilton-Okur-Chung neurodevelopmental syndrome (CHOCNS) is characterized mainly by global developmental delay with variably impaired intellectual development and occasional speech delay. Most patients have behavioral abnormalities, including autism spectrum disorder, ADHD, and aggression. About half of patients have dysmorphic facial features, and about half have nonspecific brain abnormalities, including thin corpus callosum. Rare involvement of other organ systems may be present. At least 1 child with normal development at age 2.5 years has been reported (Chilton et al., 2020).
Developmental and epileptic encephalopathy 105 with hypopituitarism
MedGen UID:
1823963
Concept ID:
C5774190
Disease or Syndrome
Developmental and epileptic encephalopathy-105 with hypopituitarism (DEE105) is an autosomal recessive disorder characterized by the onset of seizures and pituitary insufficiency in the first weeks or months of life. Affected individuals have profoundly impaired development with almost no acquisition of skills. They are hypotonic, unable to sit or speak, and have poor or absent visual fixation. Endocrine workup shows central pituitary dysfunction with low hormone levels. Brain imaging shows cerebral atrophy, thin corpus callosum, and small pituitary gland (Schanzer et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.
Pituitary hormone deficiency, combined or isolated, 8
MedGen UID:
1841011
Concept ID:
C5830375
Disease or Syndrome
Combined pituitary hormone deficiency-8 (CPHD8) is an autosomal dominant disorder characterized by deficiency of one or more of the pituitary hormones. Affected individuals have short stature due to growth hormone (GH; 139250) deficiency with variable deficiencies of other pituitary hormones, including TSH (see 188540), ACTH, and LH/FSH (see 118850). Posterior pituitary deficiency leading to central diabetes insipidus is rare (Bashamboo et al., 2017). Many patients are diagnosed with 'pituitary stalk interruption syndrome' (PSIS), which is characterized by a thin or absent pituitary stalk, absent or ectopic posterior pituitary, and hypoplasia of the anterior pituitary demonstrated on brain imaging, although this classic triad may be incomplete. Brauner et al. (2020) noted the complex phenotypic and genetic heterogeneity of PSIS, and concluded that it is a feature of genetic disorders or syndromes rather than a specific clinical entity. For a discussion of genetic heterogeneity of combined pituitary hormone deficiency, see CPHD1 (613038).

Professional guidelines

PubMed

Fang Q, Benedetti AF, Ma Q, Gregory L, Li JZ, Dattani M, Sadeghi-Nejad A, Arnhold IJ, Mendonca BB, Camper SA, Carvalho LR
Clin Endocrinol (Oxf) 2016 Sep;85(3):408-14. Epub 2016 Apr 28 doi: 10.1111/cen.13067. PMID: 27000987Free PMC Article

Recent clinical studies

Etiology

Nannette G, Bar C, Diene G, Pienkowski C, Oliver-Petit I, Jouret B, Cartault A, Porquet-Bordes V, Salles JP, Grunenwald S, Edouard T, Molinas C, Tauber M
J Clin Endocrinol Metab 2023 Jan 17;108(2):323-330. doi: 10.1210/clinem/dgac583. PMID: 36201475
Hietamäki J, Gregory LC, Ayoub S, Iivonen AP, Vaaralahti K, Liu X, Brandstack N, Buckton AJ, Laine T, Känsäkoski J, Hero M, Miettinen PJ, Varjosalo M, Wakeling E, Dattani MT, Raivio T
J Clin Endocrinol Metab 2020 Jun 1;105(6):1748-58. doi: 10.1210/clinem/dgaa078. PMID: 32060556Free PMC Article
Rohayem J, Drechsel H, Tittel B, Hahn G, Pfaeffle R, Huebner A
Horm Res Paediatr 2016;86(2):106-116. Epub 2016 Aug 3 doi: 10.1159/000448098. PMID: 27487097
Yang Y, Guo QH, Wang BA, Dou JT, Lv ZH, Ba JM, Lu JM, Pan CY, Mu YM
Clin Endocrinol (Oxf) 2013 Jul;79(1):86-92. Epub 2013 Apr 27 doi: 10.1111/cen.12116. PMID: 23199197
Mehta A, Hindmarsh PC, Mehta H, Turton JP, Russell-Eggitt I, Taylor D, Chong WK, Dattani MT
Clin Endocrinol (Oxf) 2009 Sep;71(3):376-82. Epub 2009 Mar 6 doi: 10.1111/j.1365-2265.2009.03572.x. PMID: 19320653

Diagnosis

Brauner R, Bignon-Topalovic J, Bashamboo A, McElreavey K
PLoS One 2023;18(12):e0292664. Epub 2023 Dec 14 doi: 10.1371/journal.pone.0292664. PMID: 38096238Free PMC Article
Aguiar-Oliveira MH, Souza AHO, Oliveira CRP, Campos VC, Oliveira-Neto LA, Salvatori R
Eur J Endocrinol 2017 Aug;177(2):R85-R97. Epub 2017 Apr 20 doi: 10.1530/EJE-16-1047. PMID: 28428227
Tsai SL, Laffan E, Lawrence S
Pediatr Radiol 2012 Jul;42(7):799-804. doi: 10.1007/s00247-012-2349-7. PMID: 22763804
Di Iorgi N, Allegri AE, Napoli F, Bertelli E, Olivieri I, Rossi A, Maghnie M
Clin Endocrinol (Oxf) 2012 Feb;76(2):161-76. doi: 10.1111/j.1365-2265.2011.04238.x. PMID: 21955099
Ferran Kd, Paiva IA, Gilban DL, Resende M, Souza MA, Beserra IC, Guimarães MM
Arq Neuropsiquiatr 2010 Jun;68(3):400-5. doi: 10.1590/s0004-282x2010000300014. PMID: 20602044

Therapy

Matsuno K, Nagashima S, Shiiba I, Taniwaka K, Takeda K, Tokuyama T, Ito N, Matsushita N, Fukuda T, Ishido S, Inatome R, Yanagi S
J Biochem 2020 Sep 1;168(3):305-312. doi: 10.1093/jb/mvaa050. PMID: 32302394
Rohayem J, Drechsel H, Tittel B, Hahn G, Pfaeffle R, Huebner A
Horm Res Paediatr 2016;86(2):106-116. Epub 2016 Aug 3 doi: 10.1159/000448098. PMID: 27487097
Tsai SL, Laffan E, Lawrence S
Pediatr Radiol 2012 Jul;42(7):799-804. doi: 10.1007/s00247-012-2349-7. PMID: 22763804
Thomas M, Massa G, Craen M, de Zegher F, Bourguignon JP, Heinrichs C, De Schepper J, Du Caju M, Thiry-Counson G, Maes M
Eur J Endocrinol 2004 Jul;151(1):67-72. doi: 10.1530/eje.0.1510067. PMID: 15248824
Maghnie M, Lorini R, Vitali L, Mastricci N, Carrà AM, Severi F
Eur J Pediatr 1995 Jun;154(6):450-3. doi: 10.1007/BF02029353. PMID: 7671941

Prognosis

Kale S, Gada JV, Jadhav S, Lila AR, Sarathi V, Budyal S, Patt H, Goroshi MR, Thadani PM, Arya S, Kamble AA, Patil VA, Acharya S, Sankhe S, Shivane V, Raghavan V, Bandgar TR, Shah NS
Pituitary 2020 Dec;23(6):701-715. doi: 10.1007/s11102-020-01078-4. PMID: 32894409
Hietamäki J, Gregory LC, Ayoub S, Iivonen AP, Vaaralahti K, Liu X, Brandstack N, Buckton AJ, Laine T, Känsäkoski J, Hero M, Miettinen PJ, Varjosalo M, Wakeling E, Dattani MT, Raivio T
J Clin Endocrinol Metab 2020 Jun 1;105(6):1748-58. doi: 10.1210/clinem/dgaa078. PMID: 32060556Free PMC Article
Scala M, Accogli A, Allegri AME, Tassano E, Severino M, Morana G, Maghnie M, Capra V
J Pediatr Endocrinol Metab 2019 Jan 28;32(1):95-99. doi: 10.1515/jpem-2018-0272. PMID: 30530901
Rohayem J, Drechsel H, Tittel B, Hahn G, Pfaeffle R, Huebner A
Horm Res Paediatr 2016;86(2):106-116. Epub 2016 Aug 3 doi: 10.1159/000448098. PMID: 27487097
Mehta A, Hindmarsh PC, Mehta H, Turton JP, Russell-Eggitt I, Taylor D, Chong WK, Dattani MT
Clin Endocrinol (Oxf) 2009 Sep;71(3):376-82. Epub 2009 Mar 6 doi: 10.1111/j.1365-2265.2009.03572.x. PMID: 19320653

Clinical prediction guides

Brauner R, Bignon-Topalovic J, Bashamboo A, McElreavey K
PLoS One 2023;18(12):e0292664. Epub 2023 Dec 14 doi: 10.1371/journal.pone.0292664. PMID: 38096238Free PMC Article
Lodge EJ, Xekouki P, Silva TS, Kochi C, Longui CA, Faucz FR, Santambrogio A, Mills JL, Pankratz N, Lane J, Sosnowska D, Hodgson T, Patist AL, Francis-West P, Helmbacher F, Stratakis C, Andoniadou CL
JCI Insight 2020 Oct 27;5(23) doi: 10.1172/jci.insight.134310. PMID: 33108146Free PMC Article
Aguiar-Oliveira MH, Souza AHO, Oliveira CRP, Campos VC, Oliveira-Neto LA, Salvatori R
Eur J Endocrinol 2017 Aug;177(2):R85-R97. Epub 2017 Apr 20 doi: 10.1530/EJE-16-1047. PMID: 28428227
Di Iorgi N, Allegri AE, Napoli F, Bertelli E, Olivieri I, Rossi A, Maghnie M
Clin Endocrinol (Oxf) 2012 Feb;76(2):161-76. doi: 10.1111/j.1365-2265.2011.04238.x. PMID: 21955099
Tziaferi V, Kelberman D, Dattani MT
Sex Dev 2008;2(4-5):194-9. Epub 2008 Nov 5 doi: 10.1159/000152035. PMID: 18987493

Recent systematic reviews

Jadhav S, Diwaker C, Lila AR, Gada JV, Kale S, Sarathi V, Thadani PM, Arya S, Patil VA, Shah NS, Bandgar TR
Pituitary 2021 Oct;24(5):657-669. Epub 2021 Mar 20 doi: 10.1007/s11102-021-01140-9. PMID: 33742319

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